Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism

Human Molecular Genetics

Volumn 7, Issue 11, 1998, Pages 1825-1829

  Dumanchin, Cécile ^a,d   Camuzat, Agnès ^b   Campion, Dominique ^a,d   Verpillat, Patrice ^b   Hannequin, Didier ^a,d   Dubois, Bruno ^b,c   Saugier Veber, Pascale ^a,d   Martin, Cosette ^a,d   Penet, Christiane ^b   Charbonnier, Françoise ^a,d   Agid, Yves ^b,c   Frebourg, Thierry ^a,d   Brice, Alexis ^b,c  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d IFRMP   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; PROLINE; TAU PROTEIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 17Q; CONTROLLED STUDY; DEMENTIA; EXON; GENE LOCUS; HUMAN; MISSENSE MUTATION; PARKINSONISM; PRIORITY JOURNAL; RESTRICTION FRAGMENT;

ADULT; AGE OF ONSET; AGED; DEMENTIA; FEMALE; FRONTAL LOBE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARKINSON DISEASE; PEDIGREE; TAU PROTEINS; TEMPORAL LOBE;

EID: 7344220963     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.11.1825     Document Type: Article

References (22)

1. Lynch, T., Sano, M., Marder, K.S., Bell, K.L., Foster, N.L., Defendini, R.F., Sima, A.A.F, Keohane, C., Nygaard, T.G., Fahn, S., Mayeux, R., Rowland, L.P. and Wilhelmsen, K.C. (1994) Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex. Neurology, 44, 1878-1884.
2. Yamaoka, L.H., Welsh-Bohmer, K.A., Hulette, C.M., Gaskell, P.C., Murray, M, Rimmler, J.L., Helms, B.R., Guerra, M., Roses, A.D., Schmechel, D.E. and Pericak-Vance, M.A. (1996) Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype. Am. J. Hum. Genet., 59, 1306-1312.
3. Wszolek, Z.K., Pfeiffer, R.F., Bhatt, M.H., Schelper, R.L., Cordes, M., Snow, B.J., Rodnitzky, R.L., Wolters, E.C.H., Arwert, F. and Calne, D.B. (1992) Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann. Neurol., 32, 312-320.
4. Murell, J.R., Koller, D., Foroud, T., Goedert, M., Spillantini, M.G., Edenberg, H.J., Farlow, M.R. and Ghetti, B. (1997) Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17. Am. J. Hum Genet., 61, 1131-1138.
5. Petersen, R.B., Tabaton, M., Chen, S.G., Monari, L., Richardson, S.L., Lynches, T., Manetto, V., Lanska, D.J., Markesbery, W.R., Currier, R.D., Aurilio-Gambetti, L., Wilhelmsen, K.C. and Gambetti, P. (1995) Familial progressive subcortical gliosis: presence of prions and linkage to chromosome 17. Neurology, 45, 1062-1067.
6. Wilhelsem, K.C., Lynch, T., Pavlou, E., Higgins, M. and Nygaard, T.G. (1994) Localization of disinhibition-demeiitia-parkinsonism-amyotrophy complex to 17q21-22. Am. J. Hum. Genet., 55, 1159-1165.
7. Wijker, M., Wszolek, Z.K., Wolters, E.C.H., Rooimans, M.A., Pals, G., Pfeiffer, R.F., Lynch, T., Rodnitzky, R.L., Wilhelmsen, K.C. and Arwert, F. (1996) Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum. Mol. Genet., 5, 151-154.
8. Baker, M., Kwok, J.B., Kucera, S., Crook, R., Farrer, M., Houlden, H., Isaacs, A., Lincoln, S., Onstead, L., Hardy J., Wittenberg, L., Dodd, P., Webb, S., Hayward, N., Tannenberg, T., Andreadis, A., Hallupp, M., Schofield, P., Dark F. and Hutton, M. (1997) Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. Ann. Neurol, 42, 794-798.
9. Froelich, S., Basun, H., Forsell, C., Lilius, L., Axelman, K., Andreadis, A. and Lannfelt, L. (1997) Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. Am. J. Med. Genet., 74, 380-385.
10. Heutink, P., Stevens, M., Rizzu, P., Bakker E., Kros, J.M., Tibben, A., Niermeijer, M.F., Van Duijn, C.M., Oostra, B.A. and Van Swieten, J.C. (1997) Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: a genetic and clinicopathological study of three Dutch families. Ann. Neurol., 41, 150-159.
11. Bird, T.D., Wijsman, E.M., Nochlin, D., Leehey, M., Sumi, S.M., Payami, H., Poorkaj, P., Nemens, E., Rafkind, M. and Schellenberg, G.D. (1997) Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD. Neurology, 48, 949-954.
12. Foster, N.L., Wilhelmsen, K., Sima, A.A.F., Jones, M.Z., D'Amato, C.J., Gilman, S. and Conference Participants (1997) Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Ann. Neurol., 41, 706-715.
13. Brown, J., Ashworth, A., Gydesen, S., Sorensen, A., Rossor, M., Hardy, J. and Collinge, J. (1995) Familial non-specific dementia maps to chromosome 3. Hum. Mol. Genet., 4, 1625-1628.
14. Goedert, M. (1993) Tau protein and the neurofibrillary pathology of Alzheimer's disease. Trends Neurosci., 16, 460-465.
15. St George-Hyslop, P., McLachlan, D.C., Tuda. T., Rogaev, E., Karlinsky, H., Lippa, C.F. and Pollen, D. (1994) Alzheimer disease and possible gene interaction. Science, 263, 537.
16. Strittmatte,. W.J., Saunders, A.M., Goedert, M., Weisgraber, K.H., Dong, L.M., Jakes, R., Huang, D.Y., Pericak-Vance, M., Schmechel, D. and Roses, A.D. (1994) Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease. Proc. Natl Acad. Sci. USA, 91, 11183-11186.
17. Stevens, M., van Duijn, C.M., de Knijff, P., Van Broeckhoven, C., Heutink, P., Oostra, B.A., Niermeijer, M.F. and Van Swieten, J.C. (1997) Apolipoprotein E gene and sporadic frontal lobe dementia. Neurology, 48, 1526-1529.
18. Poorkaj, P., Bird, T.D., Wijsman, E., Nemens, E., Garruto, R.M., Anderson, L., Andreadis, A., Wiederholt, W.C., Raskind, M. and Schellenberg, G.D. (1998) Tau is a candidate gene for chromosome 17 frontotemporal dementia. Ann. Neurol., 43, 815-824.
19. Hutton, M., Lendon, C.L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., Lincoln, S., Dickson, D., Davies, P., Petersen, R.C., Stevens, M., de Graff, E., Wauters, E., van Baren, J., Hillebrand, M., Joosse, M., Kwon, J.M., Nowotny, P., Kuei Che, L., Norton, J., Morris, J.C., Reed, L.A., Trojanowski, J., Basun, H., Lannfelt, L., Neystal, M., Fahn, S., Dark, F., Tannenberg. T., Dodd, P.R., Hayward, N., Kwok, J.B.J., Schofield, P.R., Andreadis, A., Snowden, J., Craufurd, D., Neary, D., Owen, F., Oostra, B.A., Hardy. J., Goate, A., van Swieten, J., Mann, D., Lynch, T. and Heutink, P. (1998) Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature, 393, 702-705.
20. Spillantini, M.G., Murrel, J.R., Goedert, M., Farlow, M.R., Klug, A. and Gherti, B. (1998) Mutation in the lau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad. Sci. USA, 95, 7737-7741.
21. Miller, B.L., Ikonte, C., Ponton, M., Levy, M., Boone, K., Darby, A., Berman, N., Mena, I. and Cummings, J.L. (1997) A study of the Lund-Manchester research criteria for frontotemporal dementia: clinical and single-photon emission CT correlations. Neurology, 48, 937-941.
22. Hixson, J.E. and Vernier, D.T. (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.J. Lipid Res., 31, 545-548.